Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

NCT05499091 | Recruiting

• 1 other identifier: 49RC22_0061
• Study Type: interventional
• Target: 1,200
• Locations: 1 country
• Sites: 1

Brief Summary

Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.

Conditions

Rare Diseases; Genetic Disease

Outcome Measures

Primary Outcomes (3)

• Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.

  Candidate genes, suspected to be responsible for rare diseases will be identified before the inclusion, during standard medical care, by exome or genome sequencing.

  23 years

• Collecting biological samples to build up a biobank

  After a candidat gene identification, patient will be proposed sampling (blood or urine) or if a skin biopsy, an amniotic fluid puncture or any surgery are done during standard care, the remaing tissue or fluid, or operative wastes will be eligible too, to be stored in the biobank.

  23 years

• Candidat gene validation through functional studies.

  Biological samples from the biobank will be made available after the study, to some specialized research teams, in order to validate or overturn those previously gene candidates by the way of some biological technics.

  23 years

Study Arms (1)

Study Arm

EXPERIMENTAL

Specific interventions: Blood samples, skin biopsy, urine collection or operational waste qualified as research sample.

Procedure: Skin biopsy, blood sample, urine sample

Interventions

Skin biopsy, blood sample, urine sample PROCEDURE

blood samples, urine samples, skin samples.

Study Arm

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patient :
• Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
• Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.
• Patient Affiliated to the French social security system.
• Patient consent form or legal representative consent form obtained.
• Patient's parent :
• Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
• Parent included in the BaMaRa database.
• Parent affiliated to the French social security system.
• Parent consent form obtained for himself/herself.
• Patient's brother or sister :
• Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
• Brother or sister included in the BaMaRa database.
• Brother or sister affiliated to the French social security system.
• Brother or sister consent form obtained for themselves or from their legal representative.

You may not qualify if:

• Poor understanding of the French language
• Legal of administrative liberty deprivation
• Psychiatric force care

Sponsors & Collaborators

• University Hospital, Angers: lead

Study Sites (1)

Centre Hospitalo-Universitaire d'Angers

Angers, 49933, France

RECRUITING

MeSH Terms

Conditions

Rare Diseases; Genetic Diseases, Inborn

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Estelle COLIN, MD-PhD

  escolin@chu-angers.fr

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Estelle COLIN, MD-PhD

CONTACT

02.41.35.34.70; escolin@chu-angers.fr

Clément PROUTEAU, MSc

CONTACT

clement.prouteau@chu-angers.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Model Details: In addition to the standard clinical care, blood samples and/or urine samples and/or skin biopsy will be proposed to the included patient to carry out further genetic analysis.

Study Record Dates

• First Submitted: July 13, 2022
• First Posted: August 12, 2022
• Study Start: October 10, 2022
• Primary Completion (Estimated): October 10, 2042
• Study Completion (Estimated): October 10, 2045
• Last Updated: July 18, 2025

Record last verified: 2025-07

Locations

FR (1)